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Clinical trial Recruiting at 4 sites Observational Ages 10 to 99

Identifying genetic factors linked to bicuspid aortic valve

Official title: Bicuspid aoRtic vAlVe gEnetic Research - BRAVE Study

Run by University Hospitals, Leicester · NCT04514445 · Data updated 2026-11-12

This study is trying to find out which genes might be linked to bicuspid aortic valve by looking at patients with the condition and their close family members.

Quick facts

Study typeObservational
Ages10 Years to 99 Years
SexAll
Enrollment700 (estimated)
SponsorUniversity Hospitals, Leicester
Academic / other
Locations4 sites (Kettering and 3 other locations)
StatusRecruiting
StartedSeptember 8, 2015
Main results expectedDecember 1, 2027
Study endsDecember 1, 2027
Registry record updatedMarch 2, 2026
Trial IDNCT04514445 on ClinicalTrials.gov

Is this trial a fit for you?

Likely a good fit

Ideal candidates include individuals aged 10 and above with a diagnosed bicuspid aortic valve, as well as their first-degree relatives.

Probably not a fit

Patients with known cytogenetic disorders or diagnosed Mendelian syndromes may not benefit from this study.

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study focuses on bicuspid aortic valve (BAV), a common congenital heart defect that can lead to serious cardiovascular issues. It aims to identify genetic variants associated with BAV by involving patients diagnosed with the condition and their first-degree relatives. The study employs both case-control and family-based approaches to better understand the genetic basis of BAV and its familial clustering. Participants will be asked to provide genetic samples and health information to facilitate this research.

Why it matters

Potential benefit: If successful, this study could lead to improved understanding and management of bicuspid aortic valve, potentially reducing complications and improving patient outcomes.

How similar studies have gone: While the genetic basis of BAV is known to be significant, this specific approach combining case-control and family-based methods is relatively novel.

Who can join: the full rules

Show full inclusion / exclusion criteria 
Inclusion Criteria:

\- 1. All outpatients and inpatients with diagnosed BAV, of either gender, aged 10 and above.

2\. Affected and unaffected first degree relatives meeting the age criteria.

Exclusion Criteria:

* 1\) Patients unable to give informed consent.

  2\) Patients known to be infected with HIV, Hepatitis B, Hepatitis C or any other agent posing an infection risk from unfixed material.

  3\) Patient with known cytogenetic disorders e.g. aneuploidia, chromosomal abnormalities and known karyotype abnormalities.

  4\) Patients with diagnosed or suspected Mendelian syndromes (e.g. Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome).

Where it's running

  • Kettering General Hospital
    Kettering, United Kingdom     Recruiting
  • University Hospitals of Leicester
    Leicester, United Kingdom     Recruiting
  • Imperial College Healthcare NHS Trust
    London, United Kingdom     Recruiting
  • Sheffield Teaching Hospital NHS Foundation Trust
    Sheffield, United Kingdom     Recruiting

Study contacts

  • Principal investigator: Aidan Bolger, Dr — Principal Investigator
  • Study coordinator: Aidan Bolger, Dr
  • Email: aidan.bolger@uhl-tr.nhs.uk

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

How to take part

  1. Review the eligibility criteria above with your treating physician.
  2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
  3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.
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Cardiovascular Diseases 365University Hospitals, Leicester 9
Last reviewed 2026-11-14 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.